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    4164 results match your criteria Adrenal Disease and Pregnancy

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    Long QT syndrome KCNH2 mutation with sequential fetal and maternal sudden death.
    Forensic Sci Med Pathol 2018 Jun 8. Epub 2018 Jun 8.
    Section of Forensic Pediatric Medicine, Clinic of Laboratory Medicine, Oslo University Hospital, Oslo, Norway.
    We report a case of a woman who experienced intrauterine fetal death at full term pregnancy, and then died suddenly soon after learning about the death of her fetus. At autopsy, previously undiagnosed neurofibromatosis and an adrenal gland pheochromocytoma were discovered in the mother. Genetic screening also revealed a novel KCNH2mutation in both fetus and mother indicating type 2 congenital long-QT syndrome (LQTS). Read More

    Perinatal and long term effects of maternal uterine artery adenoviral VEGF-A gene therapy in the growth restricted guinea pig fetus.
    Am J Physiol Regul Integr Comp Physiol 2018 May 30. Epub 2018 May 30.
    UCL.
    Uterine artery application of adenoviral vascular endothelial growth factor gene therapy (Ad.VEGF-A) increases uterine blood flow and fetal growth in experimental animals with fetal growth restriction (FGR). Whether Ad. Read More

    Maternal hypothalamus-pituitary-adrenal (HPA) system activity and stress during pregnancy: Effects on gestational age and infant's anthropometric measures at birth.
    Psychoneuroendocrinology 2018 Aug 22;94:152-161. Epub 2018 Apr 22.
    Department of Psychiatry and Psychotherapy, RG Stress, Central Institute of Mental Health, Medical Faculty Mannheim, University of Heidelberg, Germany.
    Background: Prenatal maternal stress might be a risk for the developing fetus and may have long-lasting effects on child and adult vulnerability to somatic and psychiatric disease. Over-exposure of the unborn to excess glucocorticoids and subsequent alteration of fetal development is hypothesized to be one of the key mechanisms linking prenatal stress with negative child outcome.

    Methods: In this prospective longitudinal study, mothers-to-be (n = 405) in late pregnancy (36. Read More

    Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
    Clin Chem 2018 May 14. Epub 2018 May 14.
    Counsyl, Inc., South San Francisco, CA.
    Background: By identifying pathogenic variants across hundreds of genes, expanded carrier screening (ECS) enables prospective parents to assess the risk of transmitting an autosomal recessive or X-linked condition. Detection of at-risk couples depends on the number of conditions tested, the prevalence of the respective diseases, and the screen's analytical sensitivity for identifying disease-causing variants. Disease-level analytical sensitivity is often <100% in ECS tests because copy number variants (CNVs) are typically not interrogated because of their technical complexity. Read More

    A Novel Mutation c.153 C>A in a Tunisian Girl With Wolman Disease and Unusual Presentation: Hemophagocytic Lymphohistiocytosis.
    J Pediatr Hematol Oncol 2018 Apr 26. Epub 2018 Apr 26.
    Departments of Pediatrics B.
    Wolman disease is an ultrarare lysosomal storage disease caused by a mutation in the LIPA gene. The clinical features of Wolman disease include early onset of vomiting, diarrhea, failure to thrive, hepatosplenomegaly, and bilateral adrenal calcification. We report the case of a 3-month-old infant who presented clinical features of hemophagocytic lymphohistiocytosis. Read More

    Treatment of Addison's disease during pregnancy.
    Endocrinol Diabetes Metab Case Rep 2018 12;2018. Epub 2018 Apr 12.
    Endocrinology, Diabetes and Metabolism Department, Coimbra Hospital and University Center, Coimbra, Portugal.
    Addison's disease, or primary adrenocortical insufficiency, is a long-term, potentially severe, rare endocrine disorder. In pregnancy, it is even rarer. We report the case of a 30-year-old pregnant patient with Addison's disease, referred to Obstetrics-Endocrinology specialty consult at 14 weeks gestation. Read More

    MANAGEMENT OF ENDOCRINE DISEASE: Management of Cushing's syndrome during pregnancy: solved and unsolved questions.
    Eur J Endocrinol 2018 Jun 9;178(6):R259-R266. Epub 2018 Mar 9.
    Aix-Marseille UniversitéInstitut National de la Santé et de la Recherche Médicale (INSERM), U1251, Marseille Medical Genetics, Marseille, France.
    With fewer than 200 reported cases, Cushing's syndrome (CS) in pregnancy remains a diagnostic and therapeutic challenge. In normal pregnancies, misleading signs may be observed such as striae or hypokalemia, while plasma cortisol and urinary free cortisol may rise up to 2- to 3-fold. While the dexamethasone suppression test is difficult to use, reference values for salivary cortisol appear valid. Read More

    Acute pituitary disease in pregnancy: how to handle hypophysitis and Sheehan's syndrome?
    Minerva Endocrinol 2018 Feb 19. Epub 2018 Feb 19.
    Department of Neurosurgery, University of Tübingen, Tübingen, Germany.
    Pregnancy-related hypophysitis (PR-Hy) that typically occurs during late pregnancy and the early postpartum period is considered an autoimmune disorder. Knowledge and awareness of characteristic clinical symptoms and specific endocrine and neuroradiological features mostly enables a correct diagnosis and guarantees best possible management. In the presence of mild clinical symptoms, a "wait and watch" policy is recommended. Read More

    Cushing's disease: major difficulties in diagnosis and management during pregnancy.
    Minerva Endocrinol 2018 Feb 13. Epub 2018 Feb 13.
    Endocrinology/Medicine Department, Hospital Sant Pau, Barcelona, Spain -
    Pregnancy in women with a diagnosis of Cushing' syndrome (CS) is an extremely rare event and its diagnosis and treatment are a real medical challenge. During pregnancy, the hypothalamus-pituitary-adrenal axis undergoes major changes leading to a significant increase in plasma cortisol levels throughout gestation. The difficulties in diagnosis are related to the resemblance of symptoms of CS and those of pregnancy, and to the complex interpretation of the screening tests. Read More

    A human exposure based mixture of persistent organic pollutants affects the stress response in female mice and their offspring.
    Chemosphere 2018 Apr 18;197:585-593. Epub 2018 Jan 18.
    Section for Experimental Biomedicine, Department of Production Animal Clinical Sciences, Norwegian University of Life Sciences, Norway.
    Persistent organic pollutants (POPs) are found in the food chain of both humans and animals and exert a wide spectrum of potentially adverse effects. The present experiment aimed to investigate whether a defined mixture of 29 POPs, based on the dietary intake of Scandinavians, could affect the stress response in female mice exposed through ingestion, and in their offspring. Female mice 129:C57BL/6F0 hybrids were exposed from weaning, throughout pregnancy, and up until necropsy, to either 5000 × or 100 000 × the estimated daily intake for Scandinavians. Read More

    Postpartum depression and vitamin D: A systematic review.
    Crit Rev Food Sci Nutr 2018 Feb 2:1-7. Epub 2018 Feb 2.
    c Food Security Research Center, Isfahan University of Medical Sciences , Isfahan , Iran.
    Postpartum depression (PPD) is a prevalent mood disorder estimated to affect 20%-40% of women worldwide after childbirth. In recent studies, the effect of vitamin D on prevention of mood disorders and depression has been investigated, but it is still unclear how vitamin D may affect PPD. The evidence on the relevance between vitamin D deficiency and PPD is inconsistent, and assessment of the recent literature has not previously been carried out. Read More

    Osmotic Demyelination Unrelated to Hyponatremia.
    Am J Kidney Dis 2018 Mar 23;71(3):436-440. Epub 2017 Dec 23.
    Division of Nephrology, Department of Medicine, Baylor College of Medicine, Houston, TX; Division of Nephrology, Department of Medicine, Methodist Hospital, Houston, TX; Renal Section, Veterans Affairs Medical Center, Houston, TX.
    Osmotic demyelination unrelated to hyponatremia is rarely reported. We present a case of osmotic demyelination in a patient with hypernatremia in the absence of preceding hyponatremia and review previously reported cases of osmotic demyelination in nonhyponatremic patients. We conclude that a rapid increase in serum sodium concentration and plasma tonicity even in the absence of preceding hyponatremia may surpass the brain's capacity for adaptation to hypertonicity and lead to osmotic demyelination in predisposed individuals. Read More

    Fetal adrenal gland enlargement - prenatal and postnatal management.
    Neuro Endocrinol Lett 2017 Nov;38(Suppl1):31-34
    St. Elisabeth University of Health and Social Sciences, Bratislava, Slovakia.
    Background: The enlargement of suprarenal gland is related to preterm birth and the birth weight. The ultrasound measurement of fetal adrenal gland volume may identify women at risk for impending preterm birth. The aim of our study was to investigate the newborns in the region of western Slovakia followed up due to suprarenal gland enlargement. Read More

    MANAGEMENT OF ENDOCRINE DISEASE: Fertility, pregnancy and lactation in women with adrenal insufficiency.
    Eur J Endocrinol 2018 Feb 30;178(2):R45-R53. Epub 2017 Nov 30.
    Klinik für EndokrinologieDiabetologie und Klinische Ernährung, UniversitätsSpital Zürich, Zürich, Switzerland
    With the introduction of hormonal substitution therapy in the 1950s, adrenal insufficiency (AI) has been turned into a manageable disease in pregnant women. In fact, in the light of glucocorticoid replacement therapy and improved obstetric care, it is realistic to expect good maternal and fetal outcomes in patients with AI. However, there are still a number of challenges such as establishing the diagnosis of AI in pregnant women and optimizing the treatment of AI and related comorbidities prior to as well as during pregnancy. Read More

    A Case of Cushing's Syndrome in Pregnancy.
    Iran J Med Sci 2017 Nov;42(6):607-610
    Department of Obstetrics and Gynecology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
    Cushing's syndrome (CS) occurs rarely during pregnancy. CS can be caused by prolonged abnormal exposure to excess glucocorticoids leading to special and significant signs and symptoms. It is often difficult to diagnose pathological hypercortisolism in pregnant women since some symptoms of the disease might be due to a complicated pregnancy, including preeclampsia or gestational diabetes. Read More

    Effects and Interactions of Prenatal Ethanol Exposure, a Post-Weaning High-Fat Diet and Gender on Adult Hypercholesterolemia Occurrence in Offspring Rats.
    Cell Physiol Biochem 2017 23;44(2):657-670. Epub 2017 Nov 23.
    Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan, China.
    Background/aims: Prenatal ethanol exposure (PEE) could induce intrauterine programming of hypothalamic-pituitary-adrenal axis-associated neuroendocrine metabolism, resulting in intrauterine growth retardation and susceptibility to adult hypercholesterolemia in offspring. This study aimed to analyse the effects and interactions of PEE, a post-weaning high-fat diet (HFD) and gender on the occurrence of adult hypercholesterolemia in offspring rats.

    Methods: Wistar female rats were treated with ethanol (4 g/kg. Read More

    Malignant pheochromocytoma with multiple vertebral metastases causing acute incomplete paralysis during pregnancy: Literature review with one case report.
    Medicine (Baltimore) 2017 Nov;96(44):e8535
    aDepartment of Orthopaedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences bDepartment of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College cDepartment of Neurosurgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China dDepartment of Neurosurgery, Wayne State University School of Medicine, Detroit, MI.
    Rationale: We present a rare case of malignant pheochromocytoma with thoracic metastases during pregnancy that presented with symptoms of myelopathy and was treated with circumferential decompression, stabilization, and radiation. The management of this unique case is not well documented. The clinical manifestations, imaging results, pathological characteristics, treatment and prognosis of the case were analyzed. Read More

    No. 350-Hirsutism: Evaluation and Treatment.
    J Obstet Gynaecol Can 2017 Nov;39(11):1054-1068
    Ottawa, ON.
    Objectives: To review the etiology, evaluation, and treatment of hirsutism.

    Evaluation: A thorough history and physical examination plus selected laboratory evaluations will confirm the diagnosis and direct treatment.

    Treatment: Pharmacologic interventions can suppress ovarian or adrenal androgen production and block androgen receptors in the hair follicle. Read More

    Prenatal Stress and Neurodevelopmental Plasticity: Relevance to Psychopathology.
    Adv Exp Med Biol 2017 ;1015:117-129
    Instituto de Biología Celular y Neurociencia "Prof. Eduardo De Robertis", Facultad de Medicina, Universidad de Buenos Aires, Buenos Aires, Argentina.
    Prenatal development constitutes a critical time for shaping adult behaviour and may set the stage for vulnerability to disease later in life. A wealth of information from humans as well as from animal research has revealed that exposure to hostile conditions during gestation may result in a series of coordinated biological responses aimed at enhancing the probability of survival, but could also increase the susceptibility to mental illness. Prenatal stress has been linked to abnormal cognitive, behavioural and psychosocial outcomes both in animals and in humans, but the underlying molecular and physiological mechanisms remain largely unknown. Read More

    Newborn genome-wide DNA methylation in association with pregnancy anxiety reveals a potential role for .
    Clin Epigenetics 2017 3;9:107. Epub 2017 Oct 3.
    Department of Neurosciences, Genetic Research About Stress and Psychiatry (GRASP), KU Leuven, Leuven, Belgium.
    Background: There is increasing evidence for the role of prenatal stress in shaping offspring DNA methylation and disease susceptibility. In the current study, we aimed to identify genes and pathways associated with pregnancy anxiety using a genome-wide DNA methylation approach.

    Methods: We selected 22 versus 23 newborns from our Prenatal Early Life Stress (PELS) cohort, exposed to the lowest or highest degree of maternal pregnancy anxiety, respectively. Read More

    Acute and Recurrent Pericarditis.
    Cardiol Clin 2017 Nov;35(4):505-513
    Department of Medical Sciences, University Cardiology, AOU Città della Salute e della Scienza di Torino, Corso Bramante 88/90, Torino 10126, Italy.
    Acute and recurrent pericarditis is the most common pericardial syndrome encountered in clinical practice either as an isolated process or as part of a systemic disease. The diagnosis is based on clinical evaluation, electrocardiogram, and echocardiography. The empiric therapy is based on nonsteroidal anti-inflammatory drugs plus colchicine as first choice, resorting to corticosteroids for specific indications (eg, systemic inflammatory disease on corticosteroids, pregnancy, renal failure, concomitant oral anticoagulants), for contraindications or failure of the first-line therapy. Read More

    Algorithm for the management of asthma in pregnant women: a protocol to optimize processes in healthcare.
    Expert Rev Respir Med 2017 Dec 23;11(12):1003-1012. Epub 2017 Oct 23.
    c Pneumology Department , Hospital de Laredo , Laredo , Spain.
    Introduction: Asthma is the most common chronic disease in pregnant women. Its evolution during pregnancy could improve, stay the same or worsen, especially in cases where there is a loss of clinical control. This can lead to maternal and fetal hypoxia with serious adverse perinatal outcomes. Read More

    Maternal Pseudo-Bartter Syndrome Associated with Severe Perinatal Brain Injury.
    Indian Pediatr 2017 Sep;54(9):771-773
    Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore. Correspondence to: Dr Shrenik Vora, Senior Staff Registrar, Department of Neonatology, KK Women's and Children's Hospital, 100, Bukit Timah Road, Singapore 229899,
    Background: Maternal electrolyte imbalance is rarely reported as causative factor of severe perinatal brain injury.

    Case Characteristics: This case outlines a unique maternal and neonatal pseudo-Bartter syndrome presented with metabolic alkalosis and hypochloremia due to maternal severe vomiting.

    Observation: Neonatal MRI brain revealed extensive brain hemorrhages with porencephalic cysts. Read More

    The highs and lows of programmed cardiovascular disease by developmental hypoxia: studies in the chicken embryo.
    J Physiol 2017 Oct 5. Epub 2017 Oct 5.
    Department of Physiology, Development & Neuroscience, University of Cambridge, Downing Street, Cambridge, CB2 3EG, UK.
    It is now established that adverse conditions during pregnancy can trigger a fetal origin of cardiovascular dysfunction and/or increase the risk of heart disease in later life. Suboptimal environmental conditions during early life that may promote the development of cardiovascular dysfunction in the offspring include alterations in fetal oxygenation and nutrition as well as fetal exposure to stress hormones, such as glucocorticoids. There has been growing interest in identifying the partial contributions of each of these stressors to programming of cardiovascular dysfunction. Read More

    Prenatal androgen exposure and children's aggressive behavior and activity level.
    Horm Behav 2017 Nov 1;96:156-165. Epub 2017 Nov 1.
    Department of Psychology, University of Cambridge, Free School Lane, Cambridge CB2 3RQ, United Kingdom. Electronic address:
    Some human behaviors, including aggression and activity level, differ on average for males and females. Here we report findings from two studies investigating possible relations between prenatal androgen and children's aggression and activity level. For study 1, aggression and activity level scores for 43 girls and 38 boys, aged 4 to 11years, with congenital adrenal hyperplasia (CAH, a genetic condition causing increased adrenal androgen production beginning prenatally) were compared to those of similarly-aged, unaffected relatives (41 girls, 31 boys). Read More

    Fertility outcome and information on fertility issues in individuals with different forms of disorders of sex development: findings from the dsd-LIFE study.
    Fertil Steril 2017 11 15;108(5):822-831. Epub 2017 Sep 15.
    Department of Women's and Children's Health, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden; Department of Paediatric Endocrinology, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden. Electronic address:
    Objective: To investigate fertility outcome in individuals with different forms of disorders of sex development (DSD), if assisted reproductive technology (ART) was used, and the patients' satisfaction with the information they had received.

    Design: A cross-sectional multicenter study, dsd-LIFE.

    Setting: Not applicable. Read More

    Long-Term Effects of the Periconception Period on Embryo Epigenetic Profile and Phenotype: The Role of Stress and How This Effect Is Mediated.
    Adv Exp Med Biol 2017 ;1014:117-135
    Department of Animal and Plant Sciences, University of Sheffield, Western Bank, Sheffield, S10 2TN, UK.
    Stress represents an unavoidable aspect of human life, and pathologies associated with dysregulation of stress mechanisms - particularly psychiatric disorders - represent a significant global health problem. While it has long been observed that levels of stress experienced in the periconception period may greatly affect the offspring's risk of psychiatric disorders, the mechanisms underlying these associations are not yet comprehensively understood. In order to address this question, this chapter will take a 'top-down' approach, by first defining stress and associated concepts, before exploring the mechanistic basis of the stress response in the form of the hypothalamic-pituitary-adrenal (HPA) axis, and how dysregulation of the HPA axis can impede our mental and physical health, primarily via imbalances in glucocorticoids (GCs) and their corresponding receptors (GRs) in the brain. Read More

    Prenatal Treatment with Dexamethasone in Suspected Congenital Adrenal Hyperplasia and Orofacial Cleft: a Case Report and Review of the Literature.
    Pediatr Endocrinol Rev 2017 Sep;15(1):21-25
    Radboud University Nijmegen Medical Centre, Dept. of Pediatric Endocrinology, 804, P.O 9101, 6500 HB Nijmegen, The Netherlands.
    Congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency is a genetic disorder that leads to hypocortisolism, hyperandrogenism and, in the most severe forms, also to hypoaldosteronism. Girls with classic CAH are born with virilized external genitalia. Prenatal dexamethasone (DXM) treatment can reduce virilization but may have side effects for mother and fetus. Read More

    Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
    Am J Hum Genet 2017 Sep 24;101(3):326-339. Epub 2017 Aug 24.
    Hubrecht Institute-KNAW and University Medical Center Utrecht, Uppsalalaan 8, 3584 CT Utrecht, the Netherlands. Electronic address:
    During pregnancy, cell-free DNA (cfDNA) in maternal blood encompasses a small percentage of cell-free fetal DNA (cffDNA), an easily accessible source for determination of fetal disease status in risk families through non-invasive procedures. In case of monogenic heritable disease, background maternal cfDNA prohibits direct observation of the maternally inherited allele. Non-invasive prenatal diagnostics (NIPD) of monogenic diseases therefore relies on parental haplotyping and statistical assessment of inherited alleles from cffDNA, techniques currently unavailable for routine clinical practice. Read More

    Adrenal Cushing's syndrome during pregnancy.
    Eur J Endocrinol 2017 Nov 17;177(5):K13-K20. Epub 2017 Aug 17.
    Department of Internal MedicineErasmus Medical Center, Rotterdam, The Netherlands.
    Cushing syndrome (CS) during pregnancy is a rare condition with only a few cases reported in the literature. Misdiagnosis of CS is common because of overlapping features like fatigue, weight gain, striae and emotional changes that can occur during normal pregnancy. Changes in maternal hormones and their binding proteins complicate assessment of glucocorticoid hormone levels during gestation. Read More

    Prenatal developmental origins of behavior and mental health: The influence of maternal stress in pregnancy.
    Neurosci Biobehav Rev 2017 Jul 28. Epub 2017 Jul 28.
    Hans Berger Department of Neurology, Jena University Hospital, Jena, Germany. Electronic address:
    Accumulating research shows that prenatal exposure to maternal stress increases the risk for behavioral and mental health problems later in life. This review systematically analyzes the available human studies to identify harmful stressors, vulnerable periods during pregnancy, specificities in the outcome and biological correlates of the relation between maternal stress and offspring outcome. Effects of maternal stress on offspring neurodevelopment, cognitive development, negative affectivity, difficult temperament and psychiatric disorders are shown in numerous epidemiological and case-control studies. Read More

    The use of a unique co-culture model of fetoplacental steroidogenesis as a screening tool for endocrine disruptors: The effects of neonicotinoids on aromatase activity and hormone production.
    Toxicol Appl Pharmacol 2017 10 24;332:15-24. Epub 2017 Jul 24.
    INRS - Institut Armand-Frappier, Laval, QC H7V 1B7, Canada. Electronic address:
    Estrogen biosynthesis during pregnancy is dependent on the collaboration between the fetus producing the androgen precursors, and the placenta expressing the enzyme aromatase (CYP19). Disruption of estrogen production by contaminants may result in serious pregnancy outcomes. We used our recently developed in vitro co-culture model of fetoplacental steroidogenesis to screen the effects of three neonicotinoid insecticides on the catalytic activity of aromatase and the production of steroid hormones. Read More

    Corticotropin-Releasing Hormone As the Homeostatic Rheostat of Feto-Maternal Symbiosis and Developmental Programming and Neonatal Life.
    Front Endocrinol (Lausanne) 2017 11;8:161. Epub 2017 Jul 11.
    Translational Medicine, Warwick Medical School, Coventry, United Kingdom.
    A balanced interaction between the homeostatic mechanisms of mother and the developing organism during pregnancy and in early neonatal life is essential in order to ensure optimal fetal development, ability to respond to various external and internal challenges, protection from adverse programming, and safeguard maternal care availability after parturition. In the majority of pregnancies, this relationship is highly effective resulting in successful outcomes. However, in a number of pathological settings, perturbations of the maternal homeostasis disrupt this symbiosis and initiate adaptive responses with unpredictable outcomes for the fetus or even the neonate. Read More

    Long-Term Effects of Prematurity, Cumulative Medical Risk, and Proximal and Distal Social Forces on Individual Differences in Diurnal Cortisol at Young Adulthood.
    Biol Res Nurs 2018 Jan 24;20(1):5-15. Epub 2017 Jul 24.
    3 Institute for Interdisciplinary Salivary Bioscience Research, University of California, Irvine, Irvine, CA, USA.
    This study examined the effects of prematurity, cumulative medical risk, and proximal and distal social forces on individual differences in the activity of the hypothalamic-pituitary-adrenal (HPA) axis in young adulthood. A prospective sample of 149 infants born healthy preterm (PT; n = 22), sick PT ( n = 93, medical illness, neurological illness, small for gestational age), and full term ( n = 34) was recruited from a Level III neonatal intensive care unit in southern New England between 1985 and 1989 and followed to age 23 years. Cumulative medical risk was indexed across seven assessment waves (spanning 17 years) using medical and neurological health status at birth, toddlerhood (ages 18 and 30 months), childhood (ages 4 and 8 years), and adolescence (ages 12 and 17 years). Read More

    Exposure to intimate partner violence in utero and infant internalizing behaviors: Moderation by salivary cortisol-alpha amylase asymmetry.
    Early Hum Dev 2017 10 20;113:40-48. Epub 2017 Jul 20.
    Department of Psychology, Michigan State University, USA.
    Guided by the main tenets of contemporary models of the developmental origins of health and disease, this study evaluated whether individual differences in reactivity of the hypothalamic-pituitary-adrenal (HPA) axis and Sympathetic Nervous System (SNS) moderate the effect of prenatal exposure to trauma on internalizing and externalizing behaviors during infancy. Participants were a community sample of 182 mothers (M age=25years, 43% Caucasian, 33% Black/African American, 24% Biracial/Other) and their infants (59% girls; M age=11.8months). Read More

    Hereditary Renal Diseases.
    Semin Nephrol 2017 07;37(4):354-361
    Division of Nephrology, Department of Medicine, Albert Einstein College of Medicine, Jacobi Medical Center, Bronx, NY.
    Hereditary kidney disease comprises approximately 10% of adults and nearly all children who require renal replacement therapy. Technologic advances have improved our ability to perform genetic diagnosis and enhanced our understanding of renal and syndromic diseases. In this article, we review the genetics of renal diseases, including common monogenic diseases such as polycystic kidney disease, Alport syndrome, and Fabry disease, as well as complex disorders such as congenital anomalies of the kidney and urinary tract. Read More

    Maternal use of prednisolone is unlikely to be associated with neonatal adrenal suppression-a single-center study of 16 cases.
    Eur J Pediatr 2017 Aug 10;176(8):1131-1136. Epub 2017 Jul 10.
    Department of Pediatrics, University Medical Center Groningen, Groningen, Netherlands.
    The use of supra-physiological, exogenous corticosteroids in pregnancy may lead to neonatal adrenal suppression. We report on a single-center, case series study carried out between 2006 and 2014, which included all newborns (n = 16) of mothers using prednisolone ≥10 mg/day during pregnancy. Newborns were routinely assessed according to hospital protocol, with follow-up until 6 weeks after birth. Read More

    Disseminated Neonatal Herpes Simplex Virus Infection with Escherichia Coli Coinfection.
    J Forensic Sci 2018 May 5;63(3):935-938. Epub 2017 Jul 5.
    Department of Pathology, University of New Mexico, Albuquerque, NM.
    Neonatal herpes simplex virus (HSV) infection is an uncommon disease that rarely presents as sudden unexpected death of a previously healthy newborn. Clinical manifestations are variable; signs and symptoms may be subtle and nonspecific. Neonatal infection may present with mucocutaneous (skin, eye, and/or mouth), disseminated, or central nervous system disease. Read More

    Fetal and neonatal alloimmune thrombocytopenia: evidence based antenatal and postnatal management strategies.
    Expert Rev Hematol 2017 08 29;10(8):729-737. Epub 2017 Jun 29.
    c Division of Neonatology, Department of Pediatrics , Leiden University Medical Center , Leiden , The Netherlands.
    Introduction: Fetal and neonatal alloimmune thrombocytopenia (FNAIT) is a relatively rare but potentially lethal disease, leading to severe bleeding complications in 1 in 11.000 newborns. It is the leading cause of thrombocytopenia in healthy term-born neonates. Read More

    Prenatal diagnosis of steroid 21-hydroxylase-deficient congenital adrenal hyperplasia: Experience from a tertiary care centre in India.
    Indian J Med Res 2017 Feb;145(2):194-202
    Department of Pediatrics, Division of Genetics, All India Institute of Medical Sciences, New Delhi, India.
    Background & Objectives: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder with a wide range of clinical manifestations. The disease is attributed to mutations in CYP21A2 gene encoding 21-hydroxylase enzyme. In view of severe phenotype in salt-losing cases, issues related to genital ambiguity in girls and precocity in boys, most families opt for prenatal testing and termination of affected foetus. Read More

    Prenatal caffeine exposure induced high susceptibility to metabolic syndrome in adult female offspring rats and its underlying mechanisms.
    Reprod Toxicol 2017 08 15;71:150-158. Epub 2017 Jun 15.
    Department of Pharmacology, Basic Medical School of Wuhan University, Wuhan, China; Hubei Provincial Key Laboratory of Developmentally Originated Disease, Wuhan, China. Electronic address:
    Our previous studies have demonstrated that prenatal caffeine exposure (PCE) induced an intrauterine programming of hypothalamic-pituitary-adrenal axis (HPAA)-associated neuroendocrine metabolism in 3-month-old offspring rats. In this study, we aimed to confirm this programming disorder and high susceptibility to metabolic syndrome (MS) in 10-month-old female PCE offspring with postnatal catch-up growth. We found that PCE female offspring rats showed decreased bodyweight but a higher rate of weight gain after birth. Read More

    Borderline personality disorder and childhood trauma: exploring the affected biological systems and mechanisms.
    BMC Psychiatry 2017 06 15;17(1):221. Epub 2017 Jun 15.
    Biological Psychiatry Unit, IRCCS Istituto Centro San Giovanni di Dio - Fatebenefratelli, via Pilastroni 4, Brescia, Italy.
    Background: According to several studies, the onset of the Borderline Personality Disorder (BPD) depends on the combination between genetic and environmental factors (GxE), in particular between biological vulnerabilities and the exposure to traumatic experiences during childhood. We have searched for studies reporting possible alterations in several biological processes and brain morphological features in relation to childhood trauma experiences and to BPD. We have also looked for epigenetic mechanisms as they could be mediators of the effects of childhood trauma in BPD vulnerability. Read More

    A case of acute Sheehan's syndrome and literature review: a rare but life-threatening complication of postpartum hemorrhage.
    BMC Pregnancy Childbirth 2017 Jun 14;17(1):188. Epub 2017 Jun 14.
    Department of Obstetrics and Gynecology, Osaka University Graduate School of Medicine, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan.
    Background: Sheehan's syndrome occurs because of severe postpartum hemorrhage causing ischemic pituitary necrosis. Sheehan's syndrome is a well-known condition that is generally diagnosed several years postpartum. However, acute Sheehan's syndrome is rare, and clinicians have little exposure to it. Read More

    A novel mutation in ABCD1 unveils different clinical phenotypes in a family with adrenoleukodystrophy.
    J Clin Neurosci 2017 Sep 7;43:175-177. Epub 2017 Jun 7.
    Neurologic Unit, Department of Neurosciences, Santa Chiara Hospital, Trento, Italy.
    X-linked adrenoleukodystrophy (X-ALD) is the most common peroxisomal disorder. The disease is the consequence of mutations in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain fatty acids. We describe a family with six members carrying a novel heterozygous mutation IVS4+2T>A (c. Read More

    Pathophysiology of antenatal Bartter's syndrome.
    Curr Opin Nephrol Hypertens 2017 09;26(5):419-425
    aUniversitätskinderklinik Marburg, Philipps University, Marburg, Germany bCentre de Recherche des Cordeliers; INSERM, U. 1138; CNRS, ERL8228; Université Pierre et Marie Curie and Université Paris-Descartes, Paris, France.
    Purpose Of Review: Antenatal Bartter syndrome (aBS) is a heterogenous disease resulting from defective ion transport in the thick ascending limb of the loop of Henle. Novel insights into the pathophysiology, as well as the recent identification of a novel genetic cause of aBS, merit an update on this topic.

    Recent Findings: In aBS, severe salt losing is further aggravated by defective salt sensing in the macula densa, where a reduced tubular salt concentration is perceived and glomerular filtration is increased instead of decreased. Read More

    Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women.
    Hum Reprod Update 2017 Sep;23(5):580-599
    Departments of Obstetrics/Gynecology, and Medicine, Augusta University, Augusta, GA, USA.
    Background: Non-classic congenital hyperplasia (NCAH) due to 21-hydroxylase deficiency is a common autosomal recessive disorder characterized by androgen excess.

    Objective And Rationale: We conducted a systematic review and critical assessment of the available evidence pertaining to the epidemiology, pathophysiology, diagnosis and management of NCAH. A meta-analysis of epidemiological data was also performed. Read More

    Unilateral adrenal infarction in pregnancy secondary to elevated factor VIII.
    Saudi Med J 2017 Jun;38(6):654-656
    Department of Endocrinology, Connolly Hospital,Mater Misericordiae University Hospital, Dublin, Ireland, E-mail.
    Adrenal infarction in pregnancy is an extremely rare event. We report a case of a 29-year-old pregnant woman at the twenty-fourth week of gestation that presented with an acute episode of severe localized right upper quadrant pain. Her preliminary blood investigations and abdominal ultrasonography were essentially unremarkable. Read More

    Asthma during Pregnancy: Exacerbations, Management, and Health Outcomes for Mother and Infant.
    Semin Respir Crit Care Med 2017 04 22;38(2):160-173. Epub 2017 May 22.
    Priority Research Centre for Healthy Lungs, Hunter Medical Research Institute, University of Newcastle, Newcastle, New South Wales, Australia.
    One in 10 pregnant women worldwide has asthma and of these, 10% will have a severe exacerbation requiring oral corticosteroids (OCSs) in pregnancy. This review of recent publications in the field will describe the effects of exacerbation on maternal and neonatal health, the use of asthma medications during pregnancy, and will suggest novel management approaches for asthma in pregnancy. Pregnancy results in unpredictable changes in the disease; therefore, regular monitoring of symptoms is recommended. Read More

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